ZFIN ID: ZDB-GENE-060616-389
Gene Name: junctophilin 1b
Gene Symbol: jph1b    Nomenclature History

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Previous Name: zgc:136916

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have calcium-release channel activity. Predicted to localize to several cellular components, including the endoplasmic reticulum; endoplasmic reticulum membrane; and junctional membrane complex. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
Genome Resources: Alliance (1),  Gene:556485 (1),  Ensembl(GRCz11):ENSDARG00000038826 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la023577Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa2064 Point Mutation Unknown Splice Site ENU
    sa13453 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH jph1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Charcot-Marie-Tooth disease axonal type 2K Alliance ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831
    DISEASE ASSOCIATED WITH jph1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process biological_process (more)
    Cellular Component endoplasmic reticulum (more)
    Molecular Function calcium-release channel activity (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Repeat IPR003409 MORN motif
    Family IPR017191 Junctophilin
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA jph1b-201 (1)    Ensembl 2788
    ncRNA jph1b-002 (1)    Ensembl 965
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM jph1b No data available
    MARKER RELATIONSHIPS
    jph1b Contained in: [BAC] DKEY-82K12 (1) (order this)
    jph1b Encodes: [cDNA] MGC:136916 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001044348 (1) 2788 bp
    Genomic GenBank:CR788254 (1) 227206 bp Blast at MegaBLAST
    Polypeptide UniProtKB:Q1ECU7 (1) 673 aa
    Sequence Information (all 10)
    ORTHOLOGY for jph1b ( Chr: 2 )
    CITATIONS (23)